A5073502435- Vascular Malformations and Hemangiomas
- Vascular Malformations Diagnosis and Treatment
- Vascular Tumors and Angiosarcomas
- Tumors and Oncological Cases
- Vascular Anomalies and Treatments
- Central Venous Catheters and Hemodialysis
- Lymphatic System and Diseases
- Vascular anomalies and interventions
- Soft tissue tumors and treatment
- Parvovirus B19 Infection Studies
- Islanding Detection in Power Systems
- Genetic and Kidney Cyst Diseases
- Genetic and rare skin diseases.
- Dermatologic Treatments and Research
- Cell Adhesion Molecules Research
- Histiocytic Disorders and Treatments
- Bone Tumor Diagnosis and Treatments
- Teratomas and Epidermoid Cysts
- Tuberous Sclerosis Complex Research
- Bone Metabolism and Diseases
- Sarcoma Diagnosis and Treatment
- Soft tissue tumor case studies
- Skin and Cellular Biology Research
- Parathyroid Disorders and Treatments
- Erythrocyte Function and Pathophysiology
Cliniques Universitaires Saint-Luc
2016-2025
de Duve Institute
2016-2025
Imperial College Healthcare NHS Trust
2025
UCLouvain
2009-2024
Center for Vascular Biology Research
2019
Center for Human Genetics
2017
KU Leuven
2001-2015
Haemophilia Foundation Australia
2015
Laboratory of Molecular Genetics
2013
University Hospitals of Leicester NHS Trust
2010
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene six families. Here we report 42 novel and associated phenotype 44 The penetrance de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent hallmark of disorder. Importantly, one-third had fast-flow vascular lesions. Among them, observed severe intracranial AVMs, including vein Galen...
Objective: To determine which venous malformations (VMs) are at risk for coagulopathy.Venous slow-flow vascular present birth, and localized intravascular coagulopathy (LIC) causes pain thrombosis within a lesion severe bleeding during surgical procedures.Design: Prospective convenience sample accrued from 2 multidisciplinary sites in Brussels, Belgium, Caen, France. Participants:The study population comprised 140 patients with clinical data coagulation parameters.Magnetic resonance imaging...
Capillary malformation–arteriovenous malformation (CM–AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs high risk for fast-flow lesions. A limited number of patients have been reported, raising the question phenotypic borders. We identified new with a clinical diagnosis CM–AVM, overlapping phenotypes. was screened in 261 index with: CM–AVM (n = 100), common CM(s) (port-wine stain; n Sturge–Weber syndrome 37), or isolated AVM(s)...
Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations 50% of patients with CM-AVM. Herein studied non-RASA1 to further elucidate the pathogenicity CMs AVMs.We conducted a genome-wide linkage study on CM-AVM family. Whole-exome sequencing was performed 9 unrelated families. We...
Extensive and complex vascular malformations often cause chronic pain severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great need for new therapeutic modalities. Recent preclinical clinical data demonstrated that sirolimus could offset progression of significantly improve quality life patients through inhibition Phosphatidylinositol-3-kinase (PI3K)/AKT/mammalian Target Rapamycin (mTOR) pathway. The purpose this...
Vascular and lymphatic malformations represent a challenge for clinicians. The identification of inherited somatic mutations in important signaling pathways, including the PI3K (phosphoinositide 3-kinase)/AKT (protein kinase B)/mTOR (mammalian target rapamycin), RAS (rat sarcoma)/RAF (rapidly accelerated fibrosarcoma)/MEK (mitogen-activated protein kinase)/ERK (extracellular signal-regulated kinases), HGF (hepatocyte growth factor)/c-Met factor receptor), VEGF (vascular endothelial factor)...
Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation interstitial that has extravasated from the capillaries. They provide a trafficking route for cells of immune system, thus critically contributing surveillance. Developmental or functional defects in lymphatic vessels, their obstruction damage, lead accumulation tissues, resulting lymphedema. Here we discuss developmental anomalies called malformations and complex manifest as localized multifocal lesions...
To develop clinical criteria that permit distinction between inherited glomuvenous malformation (GVM), known as glomangioma, and cutaneomucosal venous to test these on sporadic lesions.Clinical data were compiled for 1685 patients with or cutaneous anomalies. Based a cohort of mutation in the TIE2 glomulin gene histologic diagnosis, we defined GVM malformation. We then applied cases blinded manner genetically histologically confirmed this diagnosis whenever possible.Glomuvenous malformations...
The authors studied a rare, congenital, cutaneous vascular anomaly that grows proportionately with the child and does not regress. A total of 53 patients were compiled from three centers. These patients' lesions analyzed for presentation, physical findings, radiologic histopathologic characteristics, natural history, outcome after resection. occurred slightly more often in male patients, always appeared alone, located (in order frequency) head/neck region, extremities, trunk. They...
Systemic corticosteroid therapy has been used to treat hemangiomas for 30 years; yet, there are no studies of possible complications. We reviewed the database Vascular Anomalies Center at Boston Children's Hospital and gathered information on short- long-term side effects in children who were given systemic corticosteroids problematic hemangiomas. In addition, a questionnaire regarding early late consequences was sent families treated with from 1983 1997. Of 300 patients hemangiomas, 80...